Linked Data
dbSNP Id:
rs775302169
ExAC:
17:8015461 T / A
gnomAD v2:
17-8015461-T-A
gnomAD v4:
17-8112143-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8112143T>A , CM000679.2:g.8112143T>A | GRCh38 |
| NC_000017.10:g.8015461T>A , CM000679.1:g.8015461T>A | GRCh37 |
| NC_000017.9:g.7956186T>A | NCBI36 |
| NG_015807.1:g.11774A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318227.4:c.734A>T | ENSP00000314879.4:p.Lys245Met | |
| ENST00000380149.6:c.734A>T | ENSP00000369494.2:p.Lys245Met | |
| ENST00000448843.7:c.734A>T MANE Select | ENSP00000400581.2:p.Lys245Met | |
| ENST00000318227.3:c.1130A>T | ENSP00000314879.3:p.Lys377Met | |
| ENST00000380149.5:c.1202A>T | ENSP00000369494.1:p.Lys401Met | |
| ENST00000448843.6:c.734A>T | ENSP00000400581.2:p.Lys245Met | |
| NM_001165960.1:c.1130A>T | NP_001159432.1:p.Lys377Met | |
| NM_021628.2:c.734A>T | NP_067641.2:p.Lys245Met | |
| XM_017024921.2:c.734A>T | XP_016880410.1:p.Lys245Met | |
| XM_017024922.2:c.734A>T | XP_016880411.1:p.Lys245Met | |
| XM_017024923.2:c.734A>T | XP_016880412.1:p.Lys245Met | |
| XM_017024924.2:c.734A>T | XP_016880413.1:p.Lys245Met | |
| XM_017024925.2:c.734A>T | XP_016880414.1:p.Lys245Met | |
| XR_001752579.2:n.1007A>T | ||
| XR_001752580.2:n.1007A>T | ||
| NM_001369446.1:c.731A>T | NP_001356375.1:p.Lys244Met | |
| NM_021628.3:c.734A>T MANE Select | NP_067641.2:p.Lys245Met |